Ontology highlight
ABSTRACT:
SUBMITTER: Magor GW
PROVIDER: S-EPMC4521397 | biostudies-literature | 2015 Apr
REPOSITORIES: biostudies-literature
Magor Graham W GW Tallack Michael R MR Gillinder Kevin R KR Bell Charles C CC McCallum Naomi N Williams Bronwyn B Perkins Andrew C AC
Blood 20150227 15
We describe a case of severe neonatal anemia with kernicterus caused by compound heterozygosity for null mutations in KLF1, each inherited from asymptomatic parents. One of the mutations is novel. This is the first described case of a KLF1-null human. The phenotype of severe nonspherocytic hemolytic anemia, jaundice, hepatosplenomegaly, and marked erythroblastosis is more severe than that present in congenital dyserythropoietic anemia type IV as a result of dominant mutations in the second zinc- ...[more]